Beatrice Borsellino1,2, Arianna Savi1, Maria Rosaria Pascale1, Elisa Meddi1, Maria Ilaria Del Principe1, Antonio Cristiano1, Tiziana Ottone1,3, Maria Cristina Rapanotti1,5, Mariadomenica Divona1,4, Serena Travaglini1, Enrico Attardi1, Raffaele Palmieri1, Elisa Buzzatti1, Francesco Buccisano1 and Maria Teresa Voso1,3.
Department of Biomedicine and Prevention, University of Tor Vergata, Rome, Italy.
2 Hematology Clinic, Department of Clinical and Molecular Sciences, DISCLIMO, AOU Ospedali Riuniti-Università Politecnica delle Marche, Ancona, Italy.
3 Neuro-Oncohematology Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
4 UniCamillus‐Saint Camillus International University of Health Sciences, Rome Italy.
5 Department of Experimental Medicine, Tor Vergata University of Rome, Rome, Italy.
| This is an Open Access article distributed
under the terms of the Creative Commons Attribution License
(https://creativecommons.org/licenses/by-nc/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
evolution of myeloproliferative neoplasms (MPN) to acute myeloid
leukemia (AML) occurs in 2-10% of patients, depending on the MPN
subtype, treatment, and follow-up length. The reverse-path from AML to
MPN has been rarely reported.
|Figure 1. Increase in hemoglobin and hematocrit after AML chemotherapy, while the patient was in CR. Progressive increase of hemoglobin and hematocrit until August 2021, when the patient started to be treated with phlebotomies and hydroxiurea. AML: acute myeloid leukemia. CR: complete remission. HCT: hematocrit (%). HB: hemoglobin (g/dl).|
|Figure 2. Fish plot showing variation of mutations over time. Variant Allele Frequency by NGS (Percentage of sequence reads observed matching a specific DNA variant divided by the overall coverage at that locus); FA: Fractional abundance by ddPCR (Absolute quantification of mutant clone divided by the absolute quantification of mutant in addition to wild type clones); AML: Acute Myeloid Leukemia; PV: Polycythemia Vera.|
|Figure 3. Droplet digital
PCR assay for JAK2 V617F mutation detection in BM-MNCs during the
disease course. Profile of JAK2 V617F of the sequential samples at
diagnosis and follow-up, analyzed by ddPCR. Representative 1-D plots of
the ddPCR amplification of a JAK2 V617F mutant (left panel) and a JAK2
wild-type allele (right panel). The pink line indicates the
threshold.NTC: no template control.